Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases

Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease for which the genetic contribution is incompletely understood. We conducted a joint analysis of 5,523,934 imputed SNPs in two newly-genotyped progressive supranuclear palsy cohorts, primarily derived from two clinical trials (A...

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Veröffentlicht in:	Molecular neurodegeneration 2018-08, Vol.13 (1), p.41-41, Article 41
Hauptverfasser:	Chen, Jason A, Chen, Zhongbo, Won, Hyejung, Huang, Alden Y, Lowe, Jennifer K, Wojta, Kevin, Yokoyama, Jennifer S, Bensimon, Gilbert, Leigh, P Nigel, Payan, Christine, Shatunov, Aleksey, Jones, Ashley R, Lewis, Cathryn M, Deloukas, Panagiotis, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Francois, Ludolph, Albert, Boxer, Adam L, Bronstein, Jeff M, Al-Chalabi, Ammar, Geschwind, Daniel H, Coppola, Giovanni
Format:	Artikel
Sprache:	eng
Schlagworte:	Alzheimer's disease Amyotrophic lateral sclerosis Brain research Cbfa-1 protein Chromosome 17 Chromosome 6 Clinical trials Datasets Degeneration Dementia Disease susceptibility Female Genetic aspects Genetic Predisposition to Disease - genetics Genetics Genome-wide association studies Genome-Wide Association Study Genomes Genotype Heritability Human genetics Humans Life Sciences Male Mutation Nervous system Neurobiology Neurodegeneration Neurodegenerative diseases Neurodegenerative Diseases - genetics Neurons and Cognition Paralysis Parkinson's disease Pathogenesis Polymorphism, Single Nucleotide Populations and Evolution Progressive supranuclear palsy Proteins Risk factors Santé publique et épidémiologie Single-nucleotide polymorphism Studies Supranuclear Palsy, Progressive - genetics
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Zusammenfassung:	Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease for which the genetic contribution is incompletely understood. We conducted a joint analysis of 5,523,934 imputed SNPs in two newly-genotyped progressive supranuclear palsy cohorts, primarily derived from two clinical trials (Allon davunetide and NNIPPS riluzole trials in PSP) and a previously published genome-wide association study (GWAS), in total comprising 1646 cases and 10,662 controls of European ancestry. We identified 5 associated loci at a genome-wide significance threshold P
ISSN:	1750-1326 1750-1326
DOI:	10.1186/s13024-018-0270-8